Genetic Counseling

Our perinatologist and medical staff are experts in genetic testing and counseling, targeted ultrasound, antenatal testing services and fetal echocardiography. Available tests include first trimester screening, chorionic villus sampling, amniocentesis and fetal blood sampling. After diagnosis, resources are available to parents including counseling and support networks to assist in adjusting and preparing for their child's special needs and to promote informed planning and decision making.

State-of-the-Art ultrasound equipment

Through the use of targeted vaginal ultrasounds performed at an early gestational age, we have the ability to provide diagnostic information early in the pregnancy.

Amniocentesis and chorionic villus sampling (CVS)

An amniocentesis procedure uses a small sample of the amniotic fluid that surrounds the fetus and can help your doctor diagnose chromosomal disorders and open neural tube defects (ONTDs) such as spina bifida. During the procedure, a long, thin needle is inserted through the mother's abdomen into the amniotic sac. A small sample of the amniotic fluid is taken to analyze genetic information contained in cells shed by the fetus. Testing is generally offered to women between the 15th and 20th weeks of pregnancy who are at increased risk for chromosome abnormalities. For example, women who will be over the age of 35 at delivery. Also tested are those who have had an abnormal maternal serum screening test, indicating an increased risk for a chromosomal abnormality or neural tube defect.

This procedure, performed at Lucille Packard Children's hospital, is a diagnostic test that examines blood from the fetus to detect abnormalities. The procedure is similar to amniocentesis but differs in that a blood sample, not amniotic fluid is extracted. The procedure involves an ultrasound to locate the umbilical cord. A long, thin needle is used to draw the blood sample. Results are generally known within about 72 hours.

Fetal echocardiography

A pediatric cardiologist at Lucille Packard Children's Hospital analyzes your baby's fetal echocardiogram to make certain there are no heart defects.

Instant Risk Assessment/NTD Labs First Trimester Screen

An ultrasound is used to estimate an infant's risk for chromosomal abnormalities such as Down syndrome or trisomy 18, a predisposition to congenital malformations (birth defects).

Medical Consultations

We know it can feel overwhelming to be told that you are a high-risk pregnancy or, worse yet, to be told your baby is not healthy. The PDC team can help with Maternal-Fetal Medicine consultation. We will help you evaluate your options. We can explain the various tests and potential risks so you can make an informed decision that is best for you and your baby.